Canonical Allele Identifier: CA2567254

Gene: IQCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121795539G>C , CM000665.2:g.121795539G>C	GRCh38
NC_000003.11:g.121514386G>C , CM000665.1:g.121514386G>C	GRCh37
NC_000003.10:g.122997076G>C	NCBI36
NG_015887.1:g.44541C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001023570.4:c.904C>G MANE Select	NP_001018864.2:p.Gln302Glu
ENST00000310864.11:c.904C>G MANE Select	ENSP00000311505.6:p.Gln302Glu
NM_001023570.2:c.904C>G	NP_001018864.2:p.Gln302Glu
NM_001023570.3:c.904C>G	NP_001018864.2:p.Gln302Glu
NM_001023571.2:c.588-5324C>G	NP_001018865.2:n.588-5324C>G
NM_001023571.3:c.588-5324C>G	NP_001018865.2:n.588-5324C>G
NM_001023571.4:c.588-5324C>G	NP_001018865.2:n.588-5324C>G
NM_001319107.1:c.904C>G	NP_001306036.1:p.Gln302Glu
NM_001319107.2:c.904C>G	NP_001306036.1:p.Gln302Glu
NR_134968.1:n.1090+1579C>G
NR_134968.2:n.1071+1579C>G
ENST00000310864.10:c.904C>G	ENSP00000311505.6:p.Gln302Glu
ENST00000349820.10:c.588-5324C>G	ENSP00000323756.7:n.588-5324C>G
ENST00000393650.7:c.876+1579C>G	ENSP00000377261.3:n.876+1579C>G
ENST00000460108.5:c.352C>G	ENSP00000419168.1:p.Gln118Glu
XM_005247911.2:c.904C>G	XP_005247968.1:p.Gln302Glu
XM_005247911.4:c.904C>G	XP_005247968.1:p.Gln302Glu
XM_005247912.1:c.352C>G	XP_005247969.1:p.Gln118Glu
XM_005247912.3:c.352C>G	XP_005247969.1:p.Gln118Glu
XM_005247913.1:c.904C>G	XP_005247970.1:p.Gln302Glu
XM_011513335.1:c.352C>G	XP_011511637.1:p.Gln118Glu
XM_011513335.3:c.352C>G	XP_011511637.1:p.Gln118Glu
XM_017007537.2:c.352C>G	XP_016863026.1:p.Gln118Glu
XM_017007539.2:c.588-5324C>G	XP_016863028.1:n.588-5324C>G
XM_024453833.1:c.352C>G	XP_024309601.1:p.Gln118Glu
XM_024453834.1:c.352C>G	XP_024309602.1:p.Gln118Glu
XR_001740376.2:n.1032C>G
XR_001740377.2:n.1032C>G
XR_001740378.2:n.1004+1579C>G
XR_001740379.2:n.1004+1579C>G
XR_001740380.2:n.1004+1579C>G
XR_001740381.2:n.1004+1579C>G
XR_924221.1:n.1003+1579C>G